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Article

Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.

International journal of pediatric otorhinolaryngology - 1 Jul 2015

Zhan Yuan, Liu Min, Chen DeHua, Chen KaiTian, Jiang HongYan

Abstract excerpt

OBJECTIVE: Hereditary hearing loss is a clinically and genetically heterogeneous disorder associated with mutations of a large number of diverse genes. In this study we applied targeted capture and massively parallel sequencing to identify the disease-causing gene of a Chinese family segregating recessive inherited deafness. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4, mitochondrial...

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Source

Identifiers

PMID: 25930172
DOI: 10.1016/j.ijporl.2015.04.002

Genes

PCDH15
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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